Canonical Allele Identifier: CA503598158

Gene: DSG2

Linked Data

• ClinVar Variation Id: 3008410
• ClinVar RCV Id: RCV003867073
• gnomAD v4: 18-31522162-A-G
• MyVariant Identifiers: chr18:g.29102125A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522162A>G , CM000680.2:g.31522162A>G	GRCh38
NC_000018.9:g.29102125A>G , CM000680.1:g.29102125A>G	GRCh37
NC_000018.8:g.27356123A>G	NCBI36
NG_007072.3:g.28921A>G , LRG_397:g.28921A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.434A>G
ENST00000682241.2:c.603A>G	ENSP00000507600.2:p.Val201=
ENST00000683614.2:n.434A>G
ENST00000682087.1:c.434A>G
ENST00000682241.1:c.434A>G
ENST00000683614.1:c.434A>G
ENST00000683654.1:c.603A>G	ENSP00000506971.1:p.Val201=
ENST00000684461.1:n.1273A>G
ENST00000261590.13:c.603A>G MANE Select	ENSP00000261590.8:p.Val201=
ENST00000261590.12:c.603A>G	ENSP00000261590.8:p.Val201=
ENST00000585206.1:c.603A>G	ENSP00000462503.1:p.Val201=
NM_001943.3:c.603A>G , LRG_397t1:c.603A>G	NP_001934.2:p.Val201=
NM_001943.4:c.603A>G	NP_001934.2:p.Val201=
XM_024451095.1:c.69A>G	XP_024306863.1:p.Val23=
NM_001943.5:c.603A>G MANE Select	NP_001934.2:p.Val201=